Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

G/A/C|Ancestral: G|Ambiguity code: V

Chromosome 3:93877155 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM991071, CM057362

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 4977, PS-HY22

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays